ClinVar Miner

List of variants in gene PDE6A reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 243
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966 0.00445
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val) rs138315990 0.00098
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val) rs148598583 0.00094
NM_000440.3(PDE6A):c.1744C>T (p.Arg582Cys) rs148785740 0.00084
NM_000440.3(PDE6A):c.343G>A (p.Val115Ile) rs147159579 0.00081
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_000440.3(PDE6A):c.177A>G (p.Glu59=) rs146550067 0.00050
NM_000440.3(PDE6A):c.2274+11_2274+12del rs779117136 0.00050
NM_000440.3(PDE6A):c.2238T>G (p.Gly746=) rs145809648 0.00048
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) rs145107955 0.00038
NM_000440.3(PDE6A):c.298C>T (p.Arg100Trp) rs200540105 0.00033
NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser) rs149380104 0.00029
NM_000440.3(PDE6A):c.216A>G (p.Leu72=) rs570928102 0.00021
NM_000440.3(PDE6A):c.1167G>A (p.Pro389=) rs199676934 0.00019
NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val) rs147047715 0.00019
NM_000440.3(PDE6A):c.2275-12C>T rs369288898 0.00016
NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys) rs199748187 0.00014
NM_000440.3(PDE6A):c.1066-7C>G rs370250500 0.00013
NM_000440.3(PDE6A):c.594G>A (p.Val198=) rs398123394 0.00013
NM_000440.3(PDE6A):c.1728+13C>T rs144868706 0.00011
NM_000440.3(PDE6A):c.1927-20G>A rs371677858 0.00011
NM_000440.3(PDE6A):c.2349C>T (p.Phe783=) rs202092523 0.00011
NM_000440.3(PDE6A):c.2359-17C>T rs368621811 0.00011
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln) rs199738915 0.00011
NM_000440.3(PDE6A):c.2037G>A (p.Thr679=) rs140267699 0.00010
NM_000440.3(PDE6A):c.2249G>A (p.Arg750His) rs146145709 0.00010
NM_000440.3(PDE6A):c.2275-10C>T rs148881523 0.00010
NM_000440.3(PDE6A):c.2526G>A (p.Pro842=) rs376909494 0.00010
NM_000440.3(PDE6A):c.1092G>A (p.Ala364=) rs774836540 0.00009
NM_000440.3(PDE6A):c.1473+12C>T rs201026028 0.00009
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn) rs199924410 0.00009
NM_000440.3(PDE6A):c.830T>C (p.Val277Ala) rs145608358 0.00009
NM_000440.3(PDE6A):c.1434G>A (p.Glu478=) rs138205652 0.00007
NM_000440.3(PDE6A):c.1479G>A (p.Ala493=) rs772707339 0.00007
NM_000440.3(PDE6A):c.1032C>T (p.Ser344=) rs121918577 0.00006
NM_000440.3(PDE6A):c.1066-14T>C rs921783241 0.00006
NM_000440.3(PDE6A):c.1695C>T (p.Phe565=) rs555717382 0.00006
NM_000440.3(PDE6A):c.1728+7C>T rs200781025 0.00006
NM_000440.3(PDE6A):c.1958G>A (p.Arg653Gln) rs777944622 0.00006
NM_000440.3(PDE6A):c.711T>C (p.Arg237=) rs953914552 0.00006
NM_000440.3(PDE6A):c.1296A>G (p.Leu432=) rs372161698 0.00005
NM_000440.3(PDE6A):c.285C>T (p.Ser95=) rs765008436 0.00005
NM_000440.3(PDE6A):c.363C>T (p.Leu121=) rs767520227 0.00005
NM_000440.3(PDE6A):c.1473+13G>A rs745516870 0.00004
NM_000440.3(PDE6A):c.1474-10C>A rs767861672 0.00004
NM_000440.3(PDE6A):c.1474-17C>T rs376831400 0.00004
NM_000440.3(PDE6A):c.2052C>T (p.Ile684=) rs772049478 0.00004
NM_000440.3(PDE6A):c.240T>C (p.Asn80=) rs776664462 0.00004
NM_000440.3(PDE6A):c.384C>T (p.Pro128=) rs192618681 0.00004
NM_000440.3(PDE6A):c.474+11C>T rs570825152 0.00004
NM_000440.3(PDE6A):c.1503C>T (p.Tyr501=) rs780997137 0.00003
NM_000440.3(PDE6A):c.1728+8G>A rs372315011 0.00003
NM_000440.3(PDE6A):c.2013C>T (p.Leu671=) rs769405151 0.00003
NM_000440.3(PDE6A):c.2253G>A (p.Thr751=) rs772097551 0.00003
NM_000440.3(PDE6A):c.2448C>T (p.Tyr816=) rs769636229 0.00003
NM_000440.3(PDE6A):c.45G>A (p.Ser15=) rs146811139 0.00003
NM_000440.3(PDE6A):c.858+10C>T rs370635591 0.00003
NM_000440.3(PDE6A):c.9G>A (p.Glu3=) rs770411090 0.00003
NM_000440.3(PDE6A):c.1114-4G>A rs368623577 0.00002
NM_000440.3(PDE6A):c.156G>A (p.Pro52=) rs765977242 0.00002
NM_000440.3(PDE6A):c.1723C>T (p.Leu575=) rs767206584 0.00002
NM_000440.3(PDE6A):c.1927-5T>C rs772762362 0.00002
NM_000440.3(PDE6A):c.2130C>T (p.Ile710=) rs750000569 0.00002
NM_000440.3(PDE6A):c.2325C>T (p.Gly775=) rs1243259073 0.00002
NM_000440.3(PDE6A):c.2508A>T (p.Ala836=) rs893912674 0.00002
NM_000440.3(PDE6A):c.420C>T (p.Ile140=) rs542505960 0.00002
NM_000440.3(PDE6A):c.60C>G (p.Ala20=) rs765355369 0.00002
NM_000440.3(PDE6A):c.717+15C>T rs747210942 0.00002
NM_000440.3(PDE6A):c.981G>A (p.Glu327=) rs772714338 0.00002
NM_000440.3(PDE6A):c.1063C>T (p.Leu355=) rs780461144 0.00001
NM_000440.3(PDE6A):c.1074C>T (p.Asn358=) rs758801133 0.00001
NM_000440.3(PDE6A):c.1122T>G (p.Pro374=) rs1000642696 0.00001
NM_000440.3(PDE6A):c.1206A>G (p.Thr402=) rs780335505 0.00001
NM_000440.3(PDE6A):c.1263+14G>A rs1239897985 0.00001
NM_000440.3(PDE6A):c.1263+15G>C rs762978984 0.00001
NM_000440.3(PDE6A):c.1452A>G (p.Glu484=) rs1322636309 0.00001
NM_000440.3(PDE6A):c.1473+14G>A rs778440533 0.00001
NM_000440.3(PDE6A):c.1483C>T (p.Leu495=) rs769353417 0.00001
NM_000440.3(PDE6A):c.1488A>G (p.Pro496=) rs151252699 0.00001
NM_000440.3(PDE6A):c.1620+7T>G rs755438886 0.00001
NM_000440.3(PDE6A):c.1698C>T (p.Asn566=) rs149698452 0.00001
NM_000440.3(PDE6A):c.1707G>A (p.Gln569=) rs190218524 0.00001
NM_000440.3(PDE6A):c.1729-15T>C rs367796771 0.00001
NM_000440.3(PDE6A):c.1729-4C>T rs555052906 0.00001
NM_000440.3(PDE6A):c.2028-11A>T rs751895061 0.00001
NM_000440.3(PDE6A):c.2166A>G (p.Ser722=) rs777359709 0.00001
NM_000440.3(PDE6A):c.2275-3C>G rs1760328387 0.00001
NM_000440.3(PDE6A):c.2310T>C (p.Pro770=) rs1376891006 0.00001
NM_000440.3(PDE6A):c.2355C>T (p.Tyr785=) rs201275090 0.00001
NM_000440.3(PDE6A):c.2376C>T (p.His792=) rs755144386 0.00001
NM_000440.3(PDE6A):c.2433G>A (p.Ala811=) rs749307093 0.00001
NM_000440.3(PDE6A):c.2523G>A (p.Gln841=) rs753027862 0.00001
NM_000440.3(PDE6A):c.2559A>C (p.Thr853=) rs1322756731 0.00001
NM_000440.3(PDE6A):c.279C>T (p.Arg93=) rs1158661149 0.00001
NM_000440.3(PDE6A):c.286C>T (p.Leu96=) rs148052388 0.00001
NM_000440.3(PDE6A):c.39G>A (p.Leu13=) rs752568832 0.00001
NM_000440.3(PDE6A):c.628-5T>G rs757034771 0.00001
NM_000440.3(PDE6A):c.678C>T (p.His226=) rs762172422 0.00001
NM_000440.3(PDE6A):c.6C>T (p.Gly2=) rs745322421 0.00001
NM_000440.3(PDE6A):c.859-13T>C rs748579622 0.00001
NM_000440.3(PDE6A):c.934-19T>G rs1450675487 0.00001
NM_000440.3(PDE6A):c.934-9T>C rs754699776 0.00001
NM_000440.3(PDE6A):c.951G>A (p.Lys317=) rs1243383426 0.00001
NM_000440.3(PDE6A):c.1038C>G (p.Leu346=)
NM_000440.3(PDE6A):c.1047T>C (p.Tyr349=) rs2113616211
NM_000440.3(PDE6A):c.1066-10C>T rs1753073308
NM_000440.3(PDE6A):c.1113+11T>A
NM_000440.3(PDE6A):c.1114-13C>A
NM_000440.3(PDE6A):c.1114-18C>A rs754220779
NM_000440.3(PDE6A):c.114G>C (p.Gly38=)
NM_000440.3(PDE6A):c.1161A>G (p.Ser387=)
NM_000440.3(PDE6A):c.1264-16T>A
NM_000440.3(PDE6A):c.1264-18C>A
NM_000440.3(PDE6A):c.1264-5_1264-4del
NM_000440.3(PDE6A):c.129C>T (p.Ala43=)
NM_000440.3(PDE6A):c.1380T>C (p.Cys460=)
NM_000440.3(PDE6A):c.1407+12T>C rs2113592288
NM_000440.3(PDE6A):c.1407+18C>T
NM_000440.3(PDE6A):c.1408-17A>G
NM_000440.3(PDE6A):c.1419G>A (p.Glu473=)
NM_000440.3(PDE6A):c.1422G>A (p.Val474=)
NM_000440.3(PDE6A):c.1437A>G (p.Pro479=) rs2113587986
NM_000440.3(PDE6A):c.1473+15G>A
NM_000440.3(PDE6A):c.1473+18A>G
NM_000440.3(PDE6A):c.1474-15C>T
NM_000440.3(PDE6A):c.1474-5T>C rs1366454116
NM_000440.3(PDE6A):c.147C>T (p.Tyr49=)
NM_000440.3(PDE6A):c.1485G>A (p.Leu495=)
NM_000440.3(PDE6A):c.1509T>A (p.Ile503=)
NM_000440.3(PDE6A):c.1551G>A (p.Glu517=)
NM_000440.3(PDE6A):c.1593G>T (p.Val531=)
NM_000440.3(PDE6A):c.1608C>T (p.His536=)
NM_000440.3(PDE6A):c.1620+20A>G
NM_000440.3(PDE6A):c.1621-5C>T
NM_000440.3(PDE6A):c.1621-6T>C rs1239797536
NM_000440.3(PDE6A):c.1621-6T>G rs1239797536
NM_000440.3(PDE6A):c.1623C>T (p.Ala541=)
NM_000440.3(PDE6A):c.1635C>T (p.Phe545=) rs2113582916
NM_000440.3(PDE6A):c.1647G>A (p.Leu549=) rs1016493624
NM_000440.3(PDE6A):c.1671C>G (p.Thr557=) rs1334812851
NM_000440.3(PDE6A):c.1674C>T (p.Tyr558=) rs375659222
NM_000440.3(PDE6A):c.1689C>T (p.His563=) rs776918069
NM_000440.3(PDE6A):c.1728+11G>A
NM_000440.3(PDE6A):c.1728+14G>A
NM_000440.3(PDE6A):c.1729-6T>C
NM_000440.3(PDE6A):c.1740G>A (p.Leu580=)
NM_000440.3(PDE6A):c.1758C>T (p.Asp586=)
NM_000440.3(PDE6A):c.1759C>T (p.Leu587=)
NM_000440.3(PDE6A):c.1815C>G (p.Gly605=)
NM_000440.3(PDE6A):c.1830C>T (p.Tyr610=)
NM_000440.3(PDE6A):c.1838+11C>T rs781724083
NM_000440.3(PDE6A):c.1838+14C>T
NM_000440.3(PDE6A):c.1838+15C>T
NM_000440.3(PDE6A):c.1857C>T (p.Ala619=)
NM_000440.3(PDE6A):c.1863C>T (p.Leu621=)
NM_000440.3(PDE6A):c.1872C>G (p.Ser624=)
NM_000440.3(PDE6A):c.1905C>T (p.Gly635=)
NM_000440.3(PDE6A):c.1926+19del
NM_000440.3(PDE6A):c.1927-8T>C rs770392110
NM_000440.3(PDE6A):c.1941T>C (p.Phe647=) rs1011297014
NM_000440.3(PDE6A):c.1959A>G (p.Arg653=)
NM_000440.3(PDE6A):c.1965T>C (p.His655=) rs753303277
NM_000440.3(PDE6A):c.1992T>A (p.Ile664=)
NM_000440.3(PDE6A):c.2027+16C>T
NM_000440.3(PDE6A):c.2027+7A>G rs2113553314
NM_000440.3(PDE6A):c.2028-15T>C
NM_000440.3(PDE6A):c.2046A>G (p.Gln682=)
NM_000440.3(PDE6A):c.2135+16G>C
NM_000440.3(PDE6A):c.2151C>T (p.Thr717=) rs756926282
NM_000440.3(PDE6A):c.2181C>G (p.Pro727=) rs1760399009
NM_000440.3(PDE6A):c.2199+13G>A
NM_000440.3(PDE6A):c.2199+20C>G
NM_000440.3(PDE6A):c.2200-7G>T rs745449071
NM_000440.3(PDE6A):c.2223A>G (p.Glu741=)
NM_000440.3(PDE6A):c.2242C>T (p.Leu748=) rs963290822
NM_000440.3(PDE6A):c.225G>A (p.Glu75=) rs887244543
NM_000440.3(PDE6A):c.2274+15G>T
NM_000440.3(PDE6A):c.2275-5G>A rs2113503573
NM_000440.3(PDE6A):c.231C>T (p.Cys77=)
NM_000440.3(PDE6A):c.2322C>T (p.Val774=) rs766767235
NM_000440.3(PDE6A):c.2358+12G>C
NM_000440.3(PDE6A):c.2358+13C>T
NM_000440.3(PDE6A):c.2359-19C>A
NM_000440.3(PDE6A):c.2388C>A (p.Thr796=) rs2113495116
NM_000440.3(PDE6A):c.2388C>T (p.Thr796=) rs2113495116
NM_000440.3(PDE6A):c.2412C>T (p.Asn804=) rs1028395619
NM_000440.3(PDE6A):c.2430G>A (p.Lys810=) rs2113494891
NM_000440.3(PDE6A):c.243C>G (p.Val81=)
NM_000440.3(PDE6A):c.2476AAG[1] (p.Lys827del) rs533737981
NM_000440.3(PDE6A):c.2496G>A (p.Ser832=)
NM_000440.3(PDE6A):c.24G>A (p.Glu8=)
NM_000440.3(PDE6A):c.2506+12G>T rs201462717
NM_000440.3(PDE6A):c.2506+7G>A rs1382186195
NM_000440.3(PDE6A):c.2507-15C>T
NM_000440.3(PDE6A):c.2511C>T (p.Ala837=)
NM_000440.3(PDE6A):c.2526G>C (p.Pro842=) rs376909494
NM_000440.3(PDE6A):c.253C>T (p.Leu85=)
NM_000440.3(PDE6A):c.2562C>T (p.Ser854=) rs2113488146
NM_000440.3(PDE6A):c.273A>G (p.Ala91=) rs2113673450
NM_000440.3(PDE6A):c.303C>T (p.Thr101=)
NM_000440.3(PDE6A):c.345C>T (p.Val115=) rs1194504213
NM_000440.3(PDE6A):c.363C>A (p.Leu121=)
NM_000440.3(PDE6A):c.36C>T (p.Phe12=)
NM_000440.3(PDE6A):c.375G>A (p.Leu125=) rs2113673212
NM_000440.3(PDE6A):c.406T>C (p.Leu136=) rs375500044
NM_000440.3(PDE6A):c.429T>C (p.His143=) rs2113673098
NM_000440.3(PDE6A):c.432C>T (p.Val144=)
NM_000440.3(PDE6A):c.474+8C>T
NM_000440.3(PDE6A):c.475-16C>A
NM_000440.3(PDE6A):c.475-18A>G
NM_000440.3(PDE6A):c.570C>G (p.Ala190=) rs1754132339
NM_000440.3(PDE6A):c.672G>A (p.Val224=)
NM_000440.3(PDE6A):c.699T>C (p.Cys233=)
NM_000440.3(PDE6A):c.717+12G>A rs917365083
NM_000440.3(PDE6A):c.717+14G>A
NM_000440.3(PDE6A):c.717+20G>A rs780162381
NM_000440.3(PDE6A):c.717+20G>T
NM_000440.3(PDE6A):c.718-9dup rs575263004
NM_000440.3(PDE6A):c.735G>T (p.Gly245=) rs1205889575
NM_000440.3(PDE6A):c.756T>C (p.Leu252=)
NM_000440.3(PDE6A):c.75C>T (p.Asn25=)
NM_000440.3(PDE6A):c.789G>A (p.Leu263=)
NM_000440.3(PDE6A):c.78C>T (p.Leu26=)
NM_000440.3(PDE6A):c.859-4C>T
NM_000440.3(PDE6A):c.859-8A>C
NM_000440.3(PDE6A):c.861A>G (p.Glu287=)
NM_000440.3(PDE6A):c.86G>A (p.Arg29Gln) rs201008270
NM_000440.3(PDE6A):c.891T>C (p.Gly297=)
NM_000440.3(PDE6A):c.906C>T (p.Tyr302=) rs2113640830
NM_000440.3(PDE6A):c.915C>G (p.Pro305=)
NM_000440.3(PDE6A):c.915C>T (p.Pro305=) rs1285233372
NM_000440.3(PDE6A):c.924G>A (p.Pro308=)
NM_000440.3(PDE6A):c.924G>C (p.Pro308=) rs369194532
NM_000440.3(PDE6A):c.933+10C>T
NM_000440.3(PDE6A):c.934-12C>T
NM_000440.3(PDE6A):c.934-13T>C
NM_000440.3(PDE6A):c.934-14CT[2] rs1753507180
NM_000440.3(PDE6A):c.934-5G>A
NM_000440.3(PDE6A):c.996C>T (p.Ile332=)
NM_000440.3(PDE6A):c.999-15_999-12del rs2113616352

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